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This study reported that the NUDT15 R139C genetic variant was significantly associated with thiopurine-induced leukocytopenia in Japanese inflammatory bowel disease patients, independent of 6-thioguanine nucleotide levels.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.

This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.

In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.

In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

This study identified the novel genetic variant rs143321413 within the EEF2K gene, which may play a role in the development of polycystic ovary syndrome.

This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.

This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.

This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.

In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.

This study found that the combination of Stemoxydine® and Resveratrol improved hair density in women with Female Pattern Hair Loss.

This study suggests that the rs2075876 variant in the AIRE gene may significantly increase susceptibility to alopecia areata in the examined male population.

This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.

In this study, a young Chinese male with a specific mitochondrial mutation was reported to have proteinuria and renal dysfunction, with stable kidney function after treatment over 23 months.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This study found that zebrafish with a mutation in the GDP-fucose biosynthesis gene exhibited enhanced and faster regeneration of mechanosensory hair cells, implicating the importance of this gene and Notch signalling regulation in hair cell regeneration mechanisms.

This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.

This study found that the rs 1570360 polymorphism and the T-G-C haplotype of the VEGF gene may be associated with a protective factor against polycystic ovary syndrome in a Brazilian population.

This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

A new gene mutation may allow some piebaldism patients to regain skin color in white patches.

This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.

This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.

This article describes the "naked" mouse mutation, which results in hair loss and is linked to chromosome 15, noting similarities and differences with human ectodermal dysplasia, but provides no new experimental findings.

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

A new mouse mutation causes skin and hair issues, influenced by another gene.